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Rare genetic mutations, more common in the Amish community, may hold the key to preventing heart disease

Rare genetic variants that appear more frequently in the Amish community (12% of Amish in Pennsylvania have mutations) may hold the key to preventing heart disease, researchers say. Stated

  • Recent studies show that rare genetic mutations commonly found in the Amish community may hold the key to preventing heart disease.
  • The study found that people with this particular gene appear to have lower levels of cholesterol and blood clotting proteins that damage the heart.
  • Less than 1 in 10,000 people carry this gene, but surprisingly, 12% of the Pennsylvania Amish community in Lancaster County carry the gene mutation.
  • Researchers claim that this is the first time scientists have isolated genes that reduce two different but equally important risk factors for heart disease.
  • The reason for the large number of rare genetic variants in the Amish population comes from their “common pedigree and homogeneous lifestyle”.


Rare genetic mutations commonly found in the Amish community may hold the key to preventing heart disease, according to university researchers. Maryland School of medicine.

NS study Those who carry this particular gene, known as B4GALT1, have found that, like the blood clotting protein called fibrinogen, they appear to have low levels of cholesterol that damage the heart.

Less than 1 in 10,000 people carry this gene, but surprisingly Pennsylvania The Amish community in Lancaster County has a genetic mutation.

Previous studies of this gene have shown that certain mutations can alter cholesterol levels, many of which can cause arterial blockage and cardiovascular disease.

The researchers involved in this study claim that this is the first time scientists have isolated genes that reduce two different but equally important risk factors for heart disease.

Surprisingly, 12% of the Amish community in Lancaster County in the photo have a genetic mutation.

People with this particular gene, known as B4GALT1 in the photo, appear to have low levels of cholesterol that damage the heart and a blood clotting protein called fibrinogen.

People with this particular gene, known as B4GALT1 in the photo, appear to have low levels of cholesterol that damage the heart and a blood clotting protein called fibrinogen.

Photo: An Amish farmer cuts hay with a team of two horses in the countryside of Lancaster County, Pennsylvania.

Photo: An Amish farmer cuts hay with a team of two horses in the countryside of Lancaster County, Pennsylvania.

“Using data from more than 500,000 people from the general population, we found that people with this variant had a 35% lower risk of heart disease than those without it,” the research leader said. At the University of Maryland Assistant Professor of Medicine says Dr. Montasser, in a media release.

Genetic variation appears to regulate the synthesis of cholesterol and fibrinogen or accelerate clearance from the blood that protects the heart. This finding may lead to targeted drugs that mimic the action of this variant in order to prevent plaques and blood clots in the arteries.

Genetic samples taken from about 7,000 Amish participants who have worked with the university’s medical team since 1995 were sequenced by researchers, the study showed.

This study ultimately said that it had a B4GALT1 gene mutation. Approximately 14 mg / dL of LDL cholesterol is lowered and 30 mg / dL of fibrinogen is lowered.

Based on this relationship, the researchers investigated how genetic mutations affect mice that have been genetically modified to carry B4GALT1.

“A mouse model encoding this gene mutation also showed reduced levels of LDL cholesterol and fibrinogen, confirming the effect of this mutant,” reports research leader Giusy Della Gatta.

In the countryside of Lancaster County, Pennsylvania, Amish farmers are raking hay with a team of two horses.

In the countryside of Lancaster County, Pennsylvania, Amish farmers are raking hay with a team of two horses.

Photo: University of Maryland School of Medicine, where genetic mutation research was conducted

Photo: University of Maryland School of Medicine, where genetic mutation research was conducted

“This model is an invaluable tool for elucidating molecular mechanisms that help protect against cardiovascular disease.”

Researchers explained that the reason for the high concentration of rare genetic variants in the Amish population is due to their “common pedigree and homogeneous lifestyle.”

“This was a groundbreaking discovery that would not have been possible without the participation and partnership of the Amish community,” said E. Albert Reese, MD, Executive Vice President of Health Care at UM Baltimore. I am.

“We are very grateful for their ongoing commitment to precision medicine research and progress.”

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Rare genetic mutations, more common in the Amish community, may hold the key to preventing heart disease

Source link Rare genetic mutations, more common in the Amish community, may hold the key to preventing heart disease

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